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The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

Type

Journal article

Journal

Br J Haematol

Publication Date

1986

Volume

63

Pages

497 - 501

Keywords

Chromosome Deletion Fetal Blood/analysis Globins/genetics Hemoglobins, Abnormal/analysis Human Infant, Newborn Italy Thalassemia/blood/*epidemiology/genetics